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Our son, Ethan, was diagnosed with peroxisomal biogenesis disorder - zellweger spectrum disorder (PBD-ZSD), a very rare genetic disease, when he was just four weeks old. There is no cure for PBD-ZSD and treatment is symptomatic. This is our PBD-ZSD journey.

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Sunday 12/19/2010

The overall theme of this past week was COLD! Ethan and I did our best to stay home and out of the nasty weather. Is it bad that I’m already looking forward to spring?

On Monday our dietitian, Jen, came to our house. I am so thankful that our Early Intervention (EI) support team comes to us. This is so wonderful, especially now that it is winter. Ethan weighed in at 15 pounds and 1 and ½ ounces! He was 26 ¼ inches long! Jen was so pleased with Ethan’s progress – his weight is in the “average” range now. We are hoping that if we can keep him healthy and eating that he’ll be able to make it to 20 pounds by his first birthday. We’ve got seven months – I think we can do it.

Since Ethan’s weight was so great, Jen even suggested that we could stop fortifying Ethan’s milk with the soy formula. I decided that instead of completely eliminating the formula that I would simply decrease it and see if Ethan continues to gain weight appropriately. Well, I guess Ethan must have known we were talking about him, because after Monday his intake went down drastically. What a stinker! So, there is no way that we are going to do away with the added formula. He needs all the calories that he can get. Ethan is such a character because he lets his feelings about eating known – he’ll push away the bottle, close his lips tight, or even cry when you bring the bottle near his mouth. Sometimes I’m not sure if I want to cry or laugh. Who would have thought that a child of mine wouldn’t want to eat?

During our visit with Jen we introduced rice cereal/spoon feeding. While Ethan won’t be 5 months old until this Thursday, she wants us to try to begin introducing cereal so he can begin to learn about textures, etc. So, the goal is to try about 10 spoonfuls, once a day (at breakfast). So far I’m not sure if Ethan’s actually eaten any of the cereal, but we have a lot of fun getting very messy. I pray that he’ll get the hang of it.

Monday afternoon we had to go out in the extreme cold to go get Ethan’s 4 month shots. Ethan is actually really good at doctors, with his therapists, etc. but it is so hard for me to see him in pain from the shots or blood work, or whatever it might be.

On Wednesday we had home visits from our Physical Therapist and our Hearing Specialist. Our PT is great. She really worked Ethan out on Wednesday. She was so excited to see his progress. We are still working on rolling over – yeah, he’s done it a couple of times, but not for probably six weeks or more, so we are trying to play the “roll over” game with him to show him how fun being mobile could be. We are also working on helping him sit with support. She also wants us to continue with LOTS of tummy time. Ethan is getting a little better at this, but he still would prefer that we didn’t do it at all. It is so fun to see him play with his toys. This week he began being able to hold and shake one of his rattles, which is really neat. He also loves to bat at the toys from his play mat.

Our PT and I also discussed Ethan getting his helmet – this is still a work in progress, and his needing ankle foot orthotics (AFOs) in the future to help him with standing/walking. I want to thank all the moms and dads from the PBD parent support group for sharing with me and the other families with young children about their experience and need for AFOs with their kids.

In the afternoon our Hearing Specialist came for her home visit. Ethan seems to enjoy her visits a lot more than physical therapy (who could blame him – the PT makes him workout and he gets to play with his Hearing Specialist.) Julie, our Hearing Specialist, brought a Leap Frog toy (with lights and sounds) that Ethan was able to activate. He had a blast. It is always so amazing to me when I can tell that he “gets it” and is enjoying himself. Julie and I talked a lot about Ethan’s future modes of communication and ways that we can encourage speech and/or sign language. We also discussed the different types of deaf education programs available in our area for when Ethan ages out of EI and begins school.

On Thursday our Speech Language Pathologist, Betsy, came for her visit. We tried eating cereal again, with little success, but Betsey was glad that she could watch and said that we should keep trying. We discussed the importance of reading to Ethan, making sure that he wears his hearing aids every day, and to continue talking to him – she has suggested that we “narrate” the day, explaining to him what we are doing, etc.. She loved seeing Ethan laugh and she is encouraging us to continue to use signs for several words that we use regularly – mom, dad, baby, eat, more, milk.

For lunch on Thursday we once again braved the weather to go have lunch with Jeff. His supervisor at work took us and Jeff’s co-worker and his family out to lunch for an end of the year/Christmas appreciation gift. This was very nice and Jeff’s boss’ wife held Ethan for most of lunch. Jeff is very blessed to work for such a great guy.

Jeff took a half-day on Friday so he was home with us in the afternoon. I got to go to the grocery store and then we went to JC Penney to get Ethan’s 5 month pictures taken. He wasn’t very cooperative and didn’t want to show his beautiful smile off, but our photographer Tiffany (we always request her) was able to catch a smile or two. After pictures we came home and Jeff headed to church to help with the distribution of Christmas food baskets.

Saturday we tried to get a few things done around the house and then took Ethan to his Grandma and Grandpa Marshall’s house to visit while Jeff and I went to a Christmas party at church. We had a lot of fun hanging out with our friends and ate some great food. But, by 9 o’clock it was time to pick up the little guy – I missed him.

Today we had a good morning at church – well, Jeff typically goes to the worship service and Ethan and I go to the nursery – and good afternoon visiting with Jeff’s parents and grandparents.

We don’t have a single doctor or therapist appointment scheduled for this upcoming week! That doesn’t happen that often!!

Prayer requests

Pray that Ethan will start to eat better again and that he’ll continue to gain weight and grow strong.

Pray that Ethan will continue to make progress in physical therapy and speech.

Pray that Ethan will continue to be helped by his hearing aids and continue to learn from all the sounds around him.

Pray for all the families impacted by PBDs.

Pray that during this Christmas season that we truly celebrate the birth of the baby born in a manger who grew to be the man who gave His life on the cross. “For God so loved the world that he gave his one and only Son, that whoever believes in him shall not perish but have eternal life.” – John 3:16

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